Caroli Disease

Excerpt

Caroli disease is also known as congenital communicating cavernous ectasia of the biliary tree, is a rare inherited disorder involving segmental dilatation of large intrahepatic bile ducts. Caroli disease can be diffuse or limited and can present in a sac that produces cystic structures that communicates with the biliary tree. Classic Caroli disease is characterized by recurrent episodes of cholangitis and the absence of periportal fibrosis and is usually diagnosed during adolescence. Caroli disease occurs sporadically with no family history of the condition, although rare cases of autosomal dominant inheritance and association with autosomal dominant polycystic kidney disease have been reported. Classic Caroli disease involves the malformation of the biliary tract whereas Caroli syndrome refers to the presence of associated congenital hepatic fibrosis.

Caroli syndrome is inherited in an autosomal recessive pattern and is associated with autosomal recessive polycystic kidney disease (ARPKD). Treatment is supportive with antibiotics and if indicated, endoscopic treatment with endoscopic retrograde cholangiopancreatography (ERCP) for obstruction or impaction.